Canonical Allele Identifier: CA1240244660
Gene: EIF2B4 HGNC NCBI
GTF3C2-AS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27366950_27366953delinsAGAG , CM000664.2:g.27366950_27366953delinsAGAG GRCh38
NC_000002.11:g.27589817_27589820delinsAGAG , CM000664.1:g.27589817_27589820delinsAGAG GRCh37
NC_000002.10:g.27443321_27443324delinsAGAG NCBI36
NG_009305.1:g.8505_8508delinsCTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000347454.9:c.1014-17_1014-14delinsCTCT (EIF2B4) MANE Select ENSP00000233552.6:n.1014-17_1014-14delinsCTCT
ENST00000347454.8:c.1014-17_1014-14delinsCTCT (EIF2B4) ENSP00000233552.5:n.1014-17_1014-14delinsCTCT
ENST00000405940.6:c.*280-17_*280-14delinsCTCT (EIF2B4) ENSP00000384375.2:n.*280-17_*280-14delinsCTCT
ENST00000417567.1:c.588-17_588-14delinsCTCT (EIF2B4)
ENST00000445933.6:c.1011-17_1011-14delinsCTCT (EIF2B4) ENSP00000394397.2:n.1011-17_1011-14delinsCTCT
ENST00000451130.6:c.1074-17_1074-14delinsCTCT (EIF2B4) ENSP00000394869.2:n.1074-17_1074-14delinsCTCT
ENST00000475582.5:n.2898_2901delinsCTCT (EIF2B4)
ENST00000493344.6:c.1077-17_1077-14delinsCTCT (EIF2B4) ENSP00000429323.1:n.1077-17_1077-14delinsCTCT
ENST00000616081.4:c.1005-17_1005-14delinsCTCT (EIF2B4) ENSP00000477710.1:n.1005-17_1005-14delinsCTCT
ENST00000622434.4:c.*280-17_*280-14delinsCTCT (EIF2B4) ENSP00000479991.1:n.*280-17_*280-14delinsCTCT
NM_001034116.1:c.1014-17_1014-14delinsCTCT (EIF2B4) NP_001029288.1:n.1014-17_1014-14delinsCTCT
NM_015636.3:c.1011-17_1011-14delinsCTCT (EIF2B4) NP_056451.3:n.1011-17_1011-14delinsCTCT
NM_172195.3:c.1074-17_1074-14delinsCTCT (EIF2B4) NP_751945.2:n.1074-17_1074-14delinsCTCT
XM_005264632.1:c.969-17_969-14delinsCTCT (EIF2B4) XP_005264689.1:n.969-17_969-14delinsCTCT
XM_006712132.1:c.966-17_966-14delinsCTCT (EIF2B4) XP_006712195.1:n.966-17_966-14delinsCTCT
XM_011533147.1:c.396-17_396-14delinsCTCT (EIF2B4) XP_011531449.1:n.396-17_396-14delinsCTCT
XR_939868.1:n.1772-474_1772-471delinsAGAG (GTF3C2-AS2)
NM_001318965.1:c.1077-17_1077-14delinsCTCT (EIF2B4) NP_001305894.1:n.1077-17_1077-14delinsCTCT
NM_001318966.1:c.969-17_969-14delinsCTCT (EIF2B4) NP_001305895.1:n.969-17_969-14delinsCTCT
NM_001318967.1:c.921-17_921-14delinsCTCT (EIF2B4) NP_001305896.1:n.921-17_921-14delinsCTCT
NM_001318968.1:c.429-17_429-14delinsCTCT (EIF2B4) NP_001305897.1:n.429-17_429-14delinsCTCT
NM_001318969.1:c.396-17_396-14delinsCTCT (EIF2B4) NP_001305898.1:n.396-17_396-14delinsCTCT
XM_011533147.2:c.396-17_396-14delinsCTCT (EIF2B4) XP_011531449.1:n.396-17_396-14delinsCTCT
NM_001034116.2:c.1014-17_1014-14delinsCTCT (EIF2B4) MANE Select NP_001029288.1:n.1014-17_1014-14delinsCTCT
NM_001318965.2:c.1077-17_1077-14delinsCTCT (EIF2B4) NP_001305894.1:n.1077-17_1077-14delinsCTCT
NM_001318966.2:c.969-17_969-14delinsCTCT (EIF2B4) NP_001305895.1:n.969-17_969-14delinsCTCT
NM_001318967.2:c.921-17_921-14delinsCTCT (EIF2B4) NP_001305896.1:n.921-17_921-14delinsCTCT
NM_001318968.2:c.429-17_429-14delinsCTCT (EIF2B4) NP_001305897.1:n.429-17_429-14delinsCTCT
NM_001318969.2:c.396-17_396-14delinsCTCT (EIF2B4) NP_001305898.1:n.396-17_396-14delinsCTCT
NM_015636.4:c.1011-17_1011-14delinsCTCT (EIF2B4) NP_056451.3:n.1011-17_1011-14delinsCTCT
NM_172195.4:c.1074-17_1074-14delinsCTCT (EIF2B4) NP_751945.2:n.1074-17_1074-14delinsCTCT